ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3286del (p.Gln1096fs) (rs80357533)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112046 SCV000299909 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000217216 SCV000275826 pathogenic Hereditary cancer-predisposing syndrome 2015-05-14 criteria provided, single submitter clinical testing
GeneDx RCV000484714 SCV000568414 pathogenic not provided 2016-03-31 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA1 is denoted c.3286delC at the cDNA level and p.Gln1096LysfsX13 (Q1096KfsX13) at the protein level. The normal sequence, with the base that is deleted in braces, is TAAA[C]AAAG. The deletion causes a frameshift which changes a Glutamine to a Lysine at codon 1096, and creates a premature stop codon at position 13 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 c.3286delC, also denoted BRCA1 3442delC using alternate nomenclature, has been associated with breast and/or ovarian cancer (Gayther 1999, Naseem 2006). We consider this variant to be pathogenic.
Counsyl RCV000112046 SCV000677648 pathogenic Breast-ovarian cancer, familial 1 2017-04-11 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112046 SCV000144699 pathogenic Breast-ovarian cancer, familial 1 2003-12-23 no assertion criteria provided clinical testing

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